SLC35A2-CDG: Novel variant and review

SLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a pr...

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Detalles Bibliográficos
Publicado en:Mol Genet Metab Rep
Autores principales: Quelhas, Dulce, Correia, Joana, Jaeken, Jaak, Azevedo, Luísa, Lopes-Marques, Mónica, Bandeira, Anabela, Keldermans, Liesbeth, Matthijs, Gert, Sturiale, Luisa, Martins, Esmeralda
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7851840/
https://ncbi.nlm.nih.gov/pubmed/33552911
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100717
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